Genetic Testing Could Spell the End for Genetic Diseases | PRC

Genetic Testing Could Spell the End for Genetic Diseases

Genetic Testing Could Spell the End for Genetic Diseases

If you are reading this then you probably don’t know anyone that has ever died of smallpox, or anybody that has ever had smallpox for that matter. Ask every single one of your friends and they will tell you the same story. Why? Smallpox was eradicated from the human population in 1977 and is considered the greatest medical success in humanities history. Considering it killed millions in Europe, and then up to 90% of the indigenous American population when Europeans arrived in the 1500s, riding the earth of this disease might be considering our proudest accomplishment. But with huge advances in genetic testing – could the same fate await genetic diseases?


Genetic DiseasesWhat is preimplantation genetic testing?

With radical new technologies and advances in genetics – we can now look at the DNA of an unborn embryo and screen it for significant genetic diseases. Preimplantation genetic diagnosis is used in patients undergoing in vitro fertilization (IVF) treatments. It was pioneered almost 30 years ago by scientists but has only recently become a viable treatment option. When the embryo is created using IVF, one or two cells can be taken and then tested for a whole host of genetic diseases. These include:

  • Cystic Fibrosis
  • Cancer predisposition genes like BRCA1 (which carries a significant risk of breast and other cancers)
  • Beta Thalassemia (a rare anemia)
  • Fragile X syndrome
  • Duchenne’s Muscular Dystrophy (where individuals rarely survive past 10)
  • Huntington’s disease
  • Tay Sachs Disease
  • Sickle Cell Anaemia
  • Retinoblastoma
  • Multiple endocrine neoplasias


With this information, an embryo with a given defect can then be deselected from implantation into the mother’s uterus – meaning that the child born of IVF will not have a genetic disease.

The procedure can help reduce suffering for both the parents and the child. Diseases like Huntington’s have no cure and significantly reduce the patients quality of life. They are also inevitable – meaning those with the genetic mutation will almost certainly get the disease. The mutation in Huntington’s occurs randomly, but when a patient has it their children are at a significant risk of developing it. For patients with Huntington’s that want to have children, PGD is an incredibly powerful tool as it allows them to pursue this dream without the guilt that their child has a significant chance of developing the disease.


With all new scientific advances, there are inevitable ethical concerns about their use. IVF and PGD is no exception and some have raised concerns about selecting out genetic diseases turning down a slippery slope to breeding genetically superior children. But one leading geneticist at Florida International University talked to about the issue and noted

“With every reproductive-biology advance, we get the same questions: ‘won’t there be a slippery slope that leads to abuse?’ But it never happens.”

Whilst PGD will not eradicate genetic diseases as not all children are created via IVF, it is an increasingly good option for those undergoing IVF and can provide parents with a certainty that their children will be free of common genetic diseases. There are a number of specialist fertility clinics across the united states that can provide more information and advice on the procedure – as it will not be for everyone.

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